Canonical Allele Identifier: CA386086469

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96374585G>C (hg19) ; chr12:g.95980807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980807G>C , CM000674.2:g.95980807G>C	GRCh38
NC_000012.11:g.96374585G>C , CM000674.1:g.96374585G>C	GRCh37
NC_000012.10:g.94898716G>C	NCBI36
NG_008180.1:g.20487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1344C>G MANE Select	ENSP00000261208.3:p.Tyr448Ter
ENST00000261208.7:c.1344C>G	ENSP00000261208.3:p.Tyr448Ter
ENST00000538703.5:c.1344C>G	ENSP00000440861.1:p.Tyr448Ter
ENST00000541929.5:c.720C>G	ENSP00000446364.1:p.Tyr240Ter
ENST00000544080.6:c.*773C>G	ENSP00000439385.2:n.*773C>G
ENST00000546999.5:c.*765+8C>G	ENSP00000447675.1:n.*765+8C>G
NM_001258333.1:c.720C>G	NP_001245262.1:p.Tyr240Ter
NM_001258334.1:c.1344C>G	NP_001245263.1:p.Tyr448Ter
NM_002108.3:c.1344C>G	NP_002099.1:p.Tyr448Ter
XM_011538249.1:c.492C>G	XP_011536551.1:p.Tyr164Ter
XM_011538249.2:c.492C>G	XP_011536551.1:p.Tyr164Ter
XM_017019246.1:c.414C>G	XP_016874735.1:p.Tyr138Ter
NM_002108.4:c.1344C>G MANE Select	NP_002099.1:p.Tyr448Ter
NM_001258334.2:c.1344C>G	NP_001245263.1:p.Tyr448Ter
NM_001258333.2:c.720C>G	NP_001245262.1:p.Tyr240Ter